ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)

dbSNP: rs770237165
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000722000 SCV002448523 likely benign Mucopolysaccharidosis type 7 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928212 SCV004738131 likely benign GUSB-related condition 2023-04-12 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
SingHealth Duke-NUS Institute of Precision Medicine RCV000722000 SCV000853164 uncertain significance Mucopolysaccharidosis type 7 2017-06-07 no assertion criteria provided curation

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